Background Prenatal diagnosis of congenital heart disease (CHD) is essential for optimizing neonatal outcomes. However, conventional echocardiographic techniques often fall short in providing a detailed assessment of cardiac function. Advanced fetal echocardiography, particularly Speckle Tracking Echocardiography (STE), offers a promising, quantitative approach to evaluating myocardial function by measuring global longitudinal strain (GLS). Objective This thesis aims to assess fetal cardiac contractility using STE, with a focus on myocardial strain parameters. The study compares fetuses with normal cardiac anatomy to those with CHD, to identify potential prenatal deformation patterns and evaluate their predictive value for immediate postnatal interventions, such as balloon atrial septostomy (Rashkind procedure) or surgical coarctation repair. Additionally, the work investigates how strain evolves with gestational age and explores the endocardial-to-mesocardial strain ratio as a potential marker of myocardial maturation or compensatory adaptation. The ultimate goal is to refine prenatal diagnostic processes by integrating functional metrics, with important clinical implications for the perinatal management of fetuses with suspected CHD. Materials and Methods. This observational study included 99 fetuses between 15 and 37 weeks of gestation: 30 healthy controls and 69 with confirmed CHD (coarctation of the aorta, transposition of the great arteries, hypoplastic left heart syndrome, and tetralogy of Fallot). All cases were managed at the University Hospital of Padua between 2022 and 2025. Morphological and functional evaluations followed a standardized segmental protocol. STE was performed with high feasibility. Offline image analysis was conducted using TOMTEC software at the Pediatric Research Institute of Padua, calculating endocardial and mesocardial strain in the left ventricle, as well as global and free wall strain in the right ventricle. Clinical data were collected from the hospital’s eHealth Galileo platform. Statistical analyses included both parametric and non-parametric tests, with a significance level set at p < 0.05. Results The analysis revealed a significant reduction in myocardial strain in CHD fetuses compared to healthy controls across all measured parameters: left ventricular endocardial and mesocardial strain, and right ventricular global and free wall strain. In the coarctation subgroup, an endocardial GLS value below –26.60% showed good sensitivity and specificity for identifying neonates with confirmed postnatal coarctation, although no single strain metric proved consistently predictive. In fetuses with TGA and HLHS, strain values were not significantly associated with the postnatal need for Rashkind intervention. Longitudinal assessment across gestation demonstrated a progressive increase in mesocardial contractile contribution, as reflected in the Mid/Endo strain ratio. In CHD cases, deviations in this ratio suggested specific adaptive or dysfunctional myocardial remodeling, particularly in TGA and TOF. Conclusions This study confirms the high technical feasibility of fetal strain analysis and highlights its ability to detect early functional abnormalities in fetuses with CHD. Layer-specific evaluation of the ventricular wall underscores the potential of STE to capture myocardial maturation processes. These findings support the integration of strain parameters into comprehensive prenatal diagnostic protocols, which should be further validated in larger-scale studies.
Presupposti dello studio La diagnosi prenatale delle cardiopatie congenite è fondamentale per l’ottimizzazione della gestione neonatale, ma le tecniche convenzionali ecocardiografiche non sempre consentono una valutazione funzionale dettagliata. L’ecocardiografia fetale avanzata, e in particolare lo Speckle Tracking Echocardiography, rappresenta un approccio promettente per l’analisi quantitativa della funzione miocardica, tramite la misurazione dello strain longitudinale globale. Scopo dello studio La presente tesi si propone di analizzare la funzione contrattile del cuore fetale mediante Speckle Tracking Echocardiography, con particolare attenzione ai parametri di strain miocardico. L’indagine prevede il confronto tra feti con anatomia cardiaca normale e soggetti affetti da cardiopatie congenite, al fine di identificare eventuali pattern di deformazione alterati in epoca prenatale e valutarne il potenziale valore predittivo rispetto alla necessità di interventi terapeutici immediati alla nascita, quali la procedura di Rashkind o la coartectomia. Lo studio include inoltre l’analisi dell’evoluzione dello strain in relazione all’età gestazionale e del rapporto tra strain endocardico e mesocardico, con l’obiettivo di individuare marcatori funzionali di maturazione miocardica o di meccanismi compensatori. L’obiettivo è contribuire al perfezionamento del processo diagnostico prenatale attraverso l’integrazione di parametri funzionali, con ricadute cliniche significative nella gestione perinatale dei feti con sospetta cardiopatia congenita. Materiali e metodi Lo studio osservazionale ha incluso 99 feti tra 15 e 37 settimane di gestazione: 30 sani e 69 con cardiopatie congenite (CoA, TGA, HLHS, TOF), seguiti presso l’Azienda Ospedaliera di Padova tra il 2022 e il 2025. Le ecografie fetali sono state eseguite, seguendo un protocollo segmentario per la valutazione morfologica e funzionale. L’analisi con Speckle Tracking Echocardiography è stata eseguita con alta fattibilità. L’elaborazione delle immagini è avvenuta offline con software TOMTEC (presso l’Istituto di Ricerca Pediatrica di Padova) calcolando strain endocardico e mesocardico del ventricolo sinistro, e strain della parete libera e globale del ventricolo destro. I dati clinici sono stati raccolti dalla piattaforma eHealth Galileo. Risultati Lo studio ha evidenziato una significativa riduzione dello strain miocardico nei feti affetti da cardiopatia congenita rispetto ai controlli sani, in tutti i parametri analizzati: strain endocardico e mesocardico del ventricolo sinistro, strain globale e della parete libera del ventricolo destro. Nel sottogruppo CoA, il GLS endocardico < –26,60% ha mostrato buona sensibilità e specificità per discriminare i casi confermati alla nascita, sebbene i singoli parametri di strain non si siano dimostrati predittivi in modo univoco. Nei feti con TGA e HLHS non è emersa una correlazione statisticamente significativa tra i valori di strain e la necessità postnatale di procedura di Rashkind. L’analisi longitudinale dello sviluppo fetale ha documentato un incremento progressivo del contributo contrattile della parete mesocardica, confermato dal rapporto Mid/Endo. Nei feti patologici, il rapporto Mid/Endo ha mostrato pattern alterati, suggerendo meccanismi adattativi o disfunzionali specifici, in particolare nei casi di TGA e TOF. Conclusioni Lo studio ha confermato l’elevata fattibilità tecnica dell’analisi dello strain fetale, evidenziando differenze funzionali precoci tra feti sani e patologici. La valutazione stratificata della parete ventricolare ha messo in luce il potenziale dello strain nel descrivere i processi di maturazione miocardica. Tali risultati supportano l’uso dello strain all’interno di un approccio diagnostico integrato, da validare in studi futuri.
Studio della meccanica cardiaca fetale nelle cardiopatie congenite
BERTOLIN, AURORA
2024/2025
Abstract
Background Prenatal diagnosis of congenital heart disease (CHD) is essential for optimizing neonatal outcomes. However, conventional echocardiographic techniques often fall short in providing a detailed assessment of cardiac function. Advanced fetal echocardiography, particularly Speckle Tracking Echocardiography (STE), offers a promising, quantitative approach to evaluating myocardial function by measuring global longitudinal strain (GLS). Objective This thesis aims to assess fetal cardiac contractility using STE, with a focus on myocardial strain parameters. The study compares fetuses with normal cardiac anatomy to those with CHD, to identify potential prenatal deformation patterns and evaluate their predictive value for immediate postnatal interventions, such as balloon atrial septostomy (Rashkind procedure) or surgical coarctation repair. Additionally, the work investigates how strain evolves with gestational age and explores the endocardial-to-mesocardial strain ratio as a potential marker of myocardial maturation or compensatory adaptation. The ultimate goal is to refine prenatal diagnostic processes by integrating functional metrics, with important clinical implications for the perinatal management of fetuses with suspected CHD. Materials and Methods. This observational study included 99 fetuses between 15 and 37 weeks of gestation: 30 healthy controls and 69 with confirmed CHD (coarctation of the aorta, transposition of the great arteries, hypoplastic left heart syndrome, and tetralogy of Fallot). All cases were managed at the University Hospital of Padua between 2022 and 2025. Morphological and functional evaluations followed a standardized segmental protocol. STE was performed with high feasibility. Offline image analysis was conducted using TOMTEC software at the Pediatric Research Institute of Padua, calculating endocardial and mesocardial strain in the left ventricle, as well as global and free wall strain in the right ventricle. Clinical data were collected from the hospital’s eHealth Galileo platform. Statistical analyses included both parametric and non-parametric tests, with a significance level set at p < 0.05. Results The analysis revealed a significant reduction in myocardial strain in CHD fetuses compared to healthy controls across all measured parameters: left ventricular endocardial and mesocardial strain, and right ventricular global and free wall strain. In the coarctation subgroup, an endocardial GLS value below –26.60% showed good sensitivity and specificity for identifying neonates with confirmed postnatal coarctation, although no single strain metric proved consistently predictive. In fetuses with TGA and HLHS, strain values were not significantly associated with the postnatal need for Rashkind intervention. Longitudinal assessment across gestation demonstrated a progressive increase in mesocardial contractile contribution, as reflected in the Mid/Endo strain ratio. In CHD cases, deviations in this ratio suggested specific adaptive or dysfunctional myocardial remodeling, particularly in TGA and TOF. Conclusions This study confirms the high technical feasibility of fetal strain analysis and highlights its ability to detect early functional abnormalities in fetuses with CHD. Layer-specific evaluation of the ventricular wall underscores the potential of STE to capture myocardial maturation processes. These findings support the integration of strain parameters into comprehensive prenatal diagnostic protocols, which should be further validated in larger-scale studies.| File | Dimensione | Formato | |
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https://hdl.handle.net/20.500.12608/86270